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Cellosaurus BIHi001-B-3 (CVCL_D6L1)

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Cell line name BIHi001-B-3
Synonyms 1B-THRB-GS-2
Accession CVCL_D6L1
Resource Identification Initiative To cite this cell line use: BIHi001-B-3 (RRID:CVCL_D6L1)
Comments From: Berlin Institute of Health; Berlin; Germany.
Population: Caucasian.
Derived from site: In situ; Foreskin, skin; UBERON=UBERON_0001471.
Cell type: Fibroblast of foreskin; CL=CL_1001608.
Sequence variations
  • Mutation; HGNC; HGNC:11799; THRB; Simple_edited; p.Glu125_Gly126delinsGlySer (c.372_376delinsCGGCA); Zygosity=Homozygous; Note=By CRISPR/Cas9. Abolishes recognition of thyroid hormone response elements and regulation of gene expression (PubMed=38100912).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_YN70 (BIHi001-B)
Sex of cell Male
Age at sampling <1M
Category Induced pluripotent stem cell
Publications

PubMed=38100912; DOI=10.1016/j.scr.2023.103275
Katarzyna Anna Ludwik, Regina Jahn, Ann-Kathrin Schording, Lars C. Moeller, Harald Stachelscheid;
Generation of THRB-GS(E125G_G126S) and THRB-KO human iPSC lines to study noncanonical thyroid hormone signalling.
Stem Cell Res. 74:103275-103275(2024)

Cross-references
Cell line databases/resources hPSCreg; BIHi001-B-3
Encyclopedic resources Wikidata; Q127380335
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3